| H00852 | |
| H番号 | H00852 |
| 名称 | Klippel-Feil 症候群 |
| 概要 | Klippel-Feil syndrome (KFS) is a rare disorder characterized by congenital fusion of two or more cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently, involved genes (MEOX1 and MYO18B) have been identified. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB73.20 ICD-10: Q76.1 MeSH: D007714 OMIM: 118100 214300 613702 616549 |
| 文献 | PMID:1610048 著者 Smith BA, Griffin C タイトル Klippel-Feil syndrome. 雑誌 Ann Emerg Med 21:876-9 (1992) DOI:10.1016/S0196-0644(05)81038-8 PMID:12968241 著者 Farid IS, Omar OA, Insler SR タイトル Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. 雑誌 J Cardiothorac Vasc Anesth 17:502-5 (2003) DOI:10.1016/S1053-0770(03)00159-9 PMID:18425797 著者 Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA タイトル Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 雑誌 Hum Mutat 29:1017-27 (2008) DOI:10.1002/humu.20741 PMID:19864492 著者 Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ タイトル Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 雑誌 Hum Mol Genet 19:287-98 (2010) DOI:10.1093/hmg/ddp496 PMID:24073994 著者 Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ タイトル Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 雑誌 BMC Genet 14:95 (2013) DOI:10.1186/1471-2156-14-95 PMID:25748484 著者 Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS タイトル A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. 雑誌 J Med Genet 52:400-4 (2015) DOI:10.1136/jmedgenet-2014-102964 |